R46R (p.Arg46Arg) variant of EDN1 (Endothelin-1)
R46R (p.Arg46Arg) in EDN1 (Endothelin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R46R (p.Arg46Arg) variant details
- p.Arg46Arg
- rs200759992
- gnomAD 6-12292412-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0948
- CADD 2.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available